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rs80357625

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357625(-;-)
Make rs80357625(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092276
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357625
ebirs80357625
HLIrs80357625
Exacrs80357625
Varsomers80357625
Maprs80357625
PheGenIrs80357625
hapmaprs80357625
1000 genomesrs80357625
hgdprs80357625
ensemblrs80357625
gopubmedrs80357625
geneviewrs80357625
scholarrs80357625
googlers80357625
pharmgkbrs80357625
gwascentralrs80357625
openSNPrs80357625
23andMers80357625
23andMe allrs80357625
SNP Nexus

SNPshotrs80357625
SNPdbers80357625
MSV3drs80357625
GWAS Ctlgrs80357625
Max Magnitude6
rs80357625, also known as 3373insA, c.3254_3255insA and p.Arg1085?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357625(A;A)
Alt rs80357625(A;A)
Reference rs80357625(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244293dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048111.2, RCV000112035.1,